Canonical Allele Identifier: CA2241308232

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810267_88810273delinsGTGAGCC , CM000678.2:g.88810267_88810273delinsGTGAGCC	GRCh38
NC_000016.9:g.88876675_88876681delinsGTGAGCC , CM000678.1:g.88876675_88876681delinsGTGAGCC	GRCh37
NC_000016.8:g.87404176_87404182delinsGTGAGCC	NCBI36
NG_008013.1:g.6662_6668delinsGGCTCAC
NG_028266.1:g.11490_11496delinsGTGAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-125_322-119delinsGGCTCAC MANE Select	ENSP00000367615.3:n.322-125_322-119delinsGGCTCAC
ENST00000378364.7:c.322-125_322-119delinsGGCTCAC	ENSP00000367615.3:n.322-125_322-119delinsGGCTCAC
ENST00000426324.6:c.322-125_322-119delinsGGCTCAC	ENSP00000397007.2:n.322-125_322-119delinsGGCTCAC
ENST00000562464.1:n.332-125_332-119delinsGGCTCAC
ENST00000563655.5:c.241-125_241-119delinsGGCTCAC	ENSP00000456012.1:n.241-125_241-119delinsGGCTCAC
ENST00000567391.5:c.188-125_188-119delinsGGCTCAC	ENSP00000457964.1:n.188-125_188-119delinsGGCTCAC
ENST00000567713.5:c.321+150_321+156delinsGGCTCAC	ENSP00000455749.1:n.321+150_321+156delinsGGCTCAC
ENST00000568319.5:c.188-125_188-119delinsGGCTCAC	ENSP00000456905.1:n.188-125_188-119delinsGGCTCAC
ENST00000568575.1:n.126_132delinsGGCTCAC
ENST00000569616.1:c.320-125_320-119delinsGGCTCAC
NM_000485.2:c.322-125_322-119delinsGGCTCAC	NP_000476.1:n.322-125_322-119delinsGGCTCAC
NM_001030018.1:c.322-125_322-119delinsGGCTCAC	NP_001025189.1:n.322-125_322-119delinsGGCTCAC
NM_000485.3:c.322-125_322-119delinsGGCTCAC MANE Select	NP_000476.1:n.322-125_322-119delinsGGCTCAC
NM_001030018.2:c.322-125_322-119delinsGGCTCAC	NP_001025189.1:n.322-125_322-119delinsGGCTCAC